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Loss of SUFU Function in Familial Multiple Meningioma

American journal of human genetics, 2012-09, Vol.91 (3), p.520-526

2012

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Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas

Nature genetics, 2013-03, Vol.45 (3), p.295-298

2013

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A mechanistic mathematical model of initiation and malignant transformation in sporadic vestibular schwannoma

British journal of cancer, 2022-11, Vol.127 (10), p.1843-1857

2022

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Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis

Neurogenetics, 2012-05, Vol.13 (2), p.141-145

2012

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Tracking the Evolution of Non–Small-Cell Lung Cancer

The New England journal of medicine, 2017-06, Vol.376 (22), p.2109-2121

2017

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First evidence of genotype-phenotype correlations in Gorlin syndrome

Journal of medical genetics, 2017-08, Vol.54 (8), p.530

2017

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Cranial meningiomas in 411 neurofibromatosis type 2 (NF2) patients with proven gene mutations: clear positional effect of mutations, but absence of female severity effect on age at onset

Journal of medical genetics, 2011-04, Vol.48 (4), p.261-265

2011

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Clinical and molecular predictors of mortality in neurofibromatosis 2: a UK national analysis of 1192 patients

Journal of medical genetics, 2015-10, Vol.52 (10), p.699-705

2015

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SMARCB1 mutations in schwannomatosis and genotype correlations with rhabdoid tumors

Cancer genetics, 2014-09, Vol.207 (9), p.373-378

2014

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Is Reflex Germline BRCA1/2 Testing Necessary in Women Diagnosed with Non-Mucinous High-Grade Epithelial Ovarian Cancer Aged 80 Years or Older?

Cancers, 2023-01, Vol.15 (3), p.730

2023

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The Contribution of Whole Gene Deletions and Large Rearrangements to the Mutation Spectrum in Inherited Tumor Predisposing Syndromes

Human mutation, 2016-03, Vol.37 (3), p.250-256

2016

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Homologous recombination deficiency in newly diagnosed FIGO stage III/IV high-grade epithelial ovarian cancer: a multi-national observational study

International journal of gynecological cancer, 2023-08, Vol.33 (8), p.1253-1259

2023

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Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

The Lancet (British edition), 2015-04, Vol.385 (9975), p.1305-1314

2015

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High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer

Journal of medical genetics, 2022-02, Vol.59 (2), p.115

2022

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The copy number and mutational landscape of recurrent ovarian high-grade serous carcinoma

Nature communications, 2023-07, Vol.14 (1), p.4387-4387, Article 4387

2023

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SMARCE1 mutations in pediatric clear cell meningioma: case report

Journal of neurosurgery. Pediatrics, 2015-09, Vol.16 (3), p.296

2015

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Visualisation of cholesterol and ganglioside GM1 in zebrafish models of Niemann–Pick type C disease and Smith–Lemli–Opitz syndrome using light sheet microscopy

Histochemistry and cell biology, 2020-11, Vol.154 (5), p.565-578

2020

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Sensitivity of BRCA1/2 testing in high-risk breast/ovarian/male breast cancer families: little contribution of comprehensive RNA/NGS panel testing

European journal of human genetics : EJHG, 2016-11, Vol.24 (11), p.1591-1597

2016

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Vestibular schwannomas occur in schwannomatosis and should not be considered an exclusion criterion for clinical diagnosis

American journal of medical genetics. Part A, 2012-01, Vol.158A (1), p.215-219

2012

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High sensitivity for BRCA1/2 mutations in breast/ovarian kindreds: are there still other breast/ovary genes to be discovered?

Breast cancer research and treatment, 2012-07, Vol.134 (2), p.895-897

2012

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SMARCB1 mutations are not a common cause of multiple meningiomas

Journal of medical genetics, 2010-08, Vol.47 (8), p.567-568

2010

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Authentication and characterisation of a new oesophageal adenocarcinoma cell line: MFD-1

Scientific reports, 2016-09, Vol.6 (1), p.32417-32417, Article 32417

2016

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UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C , RAD51D , BRIP1 and PALB2

Journal of medical genetics, 2023-05, Vol.60 (5), p.417

2023

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Loss of SUFU Function in Familial Multiple Meningioma

Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas

A mechanistic mathematical model of initiation and malignant transformation in sporadic vestibular schwannoma

Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis

Tracking the Evolution of Non–Small-Cell Lung Cancer

First evidence of genotype-phenotype correlations in Gorlin syndrome

Germline mutations in RAD51D confer susceptibility to ovarian cancer

Cranial meningiomas in 411 neurofibromatosis type 2 (NF2) patients with proven gene mutations: clear positional effect of mutations, but absence of female severity effect on age at onset

Clinical and molecular predictors of mortality in neurofibromatosis 2: a UK national analysis of 1192 patients

SMARCB1 mutations in schwannomatosis and genotype correlations with rhabdoid tumors

Is Reflex Germline BRCA1/2 Testing Necessary in Women Diagnosed with Non-Mucinous High-Grade Epithelial Ovarian Cancer Aged 80 Years or Older?

The Contribution of Whole Gene Deletions and Large Rearrangements to the Mutation Spectrum in Inherited Tumor Predisposing Syndromes

Homologous recombination deficiency in newly diagnosed FIGO stage III/IV high-grade epithelial ovarian cancer: a multi-national observational study

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer

The copy number and mutational landscape of recurrent ovarian high-grade serous carcinoma

SMARCE1 mutations in pediatric clear cell meningioma: case report

Visualisation of cholesterol and ganglioside GM1 in zebrafish models of Niemann–Pick type C disease and Smith–Lemli–Opitz syndrome using light sheet microscopy

Implementation of Multigene Germline and Parallel Somatic Genetic Testing in Epithelial Ovarian Cancer: SIGNPOST Study

Sensitivity of BRCA1/2 testing in high-risk breast/ovarian/male breast cancer families: little contribution of comprehensive RNA/NGS panel testing

Vestibular schwannomas occur in schwannomatosis and should not be considered an exclusion criterion for clinical diagnosis

High sensitivity for BRCA1/2 mutations in breast/ovarian kindreds: are there still other breast/ovary genes to be discovered?

SMARCB1 mutations are not a common cause of multiple meningiomas

Authentication and characterisation of a new oesophageal adenocarcinoma cell line: MFD-1

UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C , RAD51D , BRIP1 and PALB2

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